Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
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Abnormality of the endocrine system (HP:0000818)help
Term ID: 818
Name: Abnormality of the endocrine system
Synonym: Endocrine system disease
Definition: An abnormality of the endocrine system.
Comments:
Reference: HP:0000818
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the thymus (HP:0000777) help
................... HP:0003357 Thymic hormone decreased
................... HP:0010515 Aplasia/Hypoplasia of the thymus
................... HP:0010516 Thymus hyperplasia
................... HP:0010517 Ectopic thymus tissue
................... HP:0100521 Neoplasm of the thymus
........expandDiabetes mellitus (HP:0000819) help
................... HP:0000831 Insulin-resistant diabetes mellitus
................... HP:0001953 Diabetic ketoacidosis
................... HP:0004904 Maturity-onset diabetes of the young
................... HP:0005978 Type II diabetes mellitus
................... HP:0009800 Maternal diabetes
................... HP:0100651 Type I diabetes mellitus
........expandAbnormality of the thyroid gland (HP:0000820) help
................... HP:0002926 Abnormality of thyroid physiology
................... HP:0011772 Abnormality of thyroid morphology
........expandAbnormality of the parathyroid gland (HP:0000828) help
................... HP:0011766 Abnormality of the parathyroid morphology
................... HP:0011767 Abnormality of the parathyroid physiology
........expandAbnormality of the adrenal glands (HP:0000834) help
................... HP:0011732 Abnormality of adrenal morphology
................... HP:0011733 Abnormality of adrenal physiology
........expandAbnormality of renin-angiotensin system (HP:0000847) help
................... HP:0000841 Hyperactive renin-angiotensin system
................... HP:0040084 Abnormal circulating renin
................... HP:0040085 Abnormal circulating aldosterone
........expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
................... HP:0012285 Abnormal hypothalamus physiology
................... HP:0012503 Abnormality of the pituitary gland
........expandDiabetes insipidus (HP:0000873) help
................... HP:0000863 Central diabetes insipidus
................... HP:0009806 Nephrogenic diabetes insipidus
........expandAbnormality of circulating hormone level (HP:0003117) help
................... HP:0000824 Growth hormone deficiency
................... HP:0003144 Increased serum serotonin
................... HP:0003152 Increased serum 1,25-dihydroxyvitamin D3
................... HP:0003162 Fasting hypoglycemia
................... HP:0003165 Elevated circulating parathyroid hormone level
................... HP:0004361 Abnormality of circulating leptin level
................... HP:0011043 Abnormality of circulating adrenocorticotropin level
................... HP:0012099 Abnormality of circulating catecholamine level
................... HP:0012111 Abnormality of circulating glucocorticoid level
................... HP:0025132 Abnormal circulating estrogen level
................... HP:0030338 Abnormal circulating gonadotropin level
................... HP:0030347 Abnormal circulating androgen level
................... HP:0030352 Abnormal serum insulin-like growth factor 1 level
................... HP:0030684 Abnormal adiponectin level
................... HP:0030687 Abnormal glucagon level
................... HP:0031052 Elevated vascular endothelial growth factor level
................... HP:0031099 Abnormal circulating inhibin level
................... HP:0031101 Abnormal antimullerian hormone level
................... HP:0031187 Abnormality of circulating pregnenolone level
................... HP:0031208 Increased pituitary glycoprotein alpha subunit level
................... HP:0031212 Abnormal circulating progesterone level
................... HP:0031214 Decreased circulating dehydroepiandrosterone level
................... HP:0031215 Decreased circulating dehydroepiandrosterone-sulfate level
................... HP:0031427 Abnormal circulating osteocalcin level
................... HP:0031508 Abnormal thyroid hormone level
................... HP:0031817 Decreased circulating parathyroid hormone level
................... HP:0040214 Abnormal insulin level
................... HP:0500012 Abnormality of gonadotropin-releasing hormone level
........expandPuberty and gonadal disorders (HP:0008373) help
................... HP:0000135 Hypogonadism
................... HP:0000823 Delayed puberty
................... HP:0000840 Adrenogenital syndrome
................... HP:0000858 Menstrual irregularities
................... HP:0002929 Leydig cell insensitivity to gonadotropin
................... HP:0008187 Absence of secondary sex characteristics
................... HP:0008193 Primary gonadal insufficiency
................... HP:0008197 Absence of pubertal development
................... HP:0008226 Androgen insufficiency
................... HP:0025132 Abnormal circulating estrogen level
................... HP:0030087 Abnormal serum testosterone level
................... HP:0031212 Abnormal circulating progesterone level
................... HP:0100000 Early onset of sexual maturation
........expandAbnormality of urine hormone level (HP:0012029) help
................... HP:0003492 High urinary gonadotropin level
................... HP:0012030 Increased urinary cortisol level
........expandAbnormality of endocrine pancreas physiology (HP:0012093) help
................... HP:0006476 Abnormality of the pancreatic islet cells
........expandAbnormality of the pineal gland (HP:0012680) help
................... HP:0012681 Abnormality of pineal morphology
................... HP:0012688 Abnormality of pineal physiology
........expandAbnormal endocrine morphology (HP:0031071) help
........expandAbnormal endocrine physiology (HP:0031072) help
................... HP:0031073 Abnormal response to endocrine stimulation test
................... HP:0031080 Abnormal response to glucagon stimulation test
................... HP:0031083 Abnormal response to human chorionic gonadotrophin stimulation test
................... HP:0031218 Inappropriate antidiuretic hormone secretion
........expandNeoplasm of the endocrine system (HP:0100568) help
................... HP:0040192 APUdoma
................... HP:0040277 Neoplasm of the pituitary gland
................... HP:0100031 Neoplasm of the thyroid gland
................... HP:0100631 Neoplasm of the adrenal gland
................... HP:0100634 Neuroendocrine neoplasm
................... HP:0100733 Neoplasm of the parathyroid gland

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000818HP:0000818Abnormality of the endocrine system0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000818Abnormality of the endocrine system0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000818Abnormality of the endocrine system0DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000818Abnormality of the endocrine system0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000818Abnormality of the endocrine system0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000818Abnormality of the endocrine system0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000818Abnormality of the endocrine system0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000818Abnormality of the endocrine system0SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000818Abnormality of the endocrine system0SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000818Abnormality of the endocrine system0SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000818Abnormality of the endocrine system0SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000819Diabetes mellitus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000819Diabetes mellitus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000777Abnormality of the thymus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000777Abnormality of the thymus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0003117Abnormal circulating hormone concentration1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0003117Abnormal circulating hormone concentration1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031071Abnormal endocrine morphology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031071Abnormal endocrine morphology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031072Abnormal endocrine physiology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031072Abnormal endocrine physiology1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012029Abnormal urine hormone level1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012029Abnormal urine hormone level1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000847Abnormality of renin-angiotensin system1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000847Abnormality of renin-angiotensin system1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000834Abnormality of the adrenal glands1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000834Abnormality of the adrenal glands1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000828Abnormality of the parathyroid gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000828Abnormality of the parathyroid gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012680Abnormality of the pineal gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012680Abnormality of the pineal gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000820Abnormality of the thyroid gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000820Abnormality of the thyroid gland1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000873Diabetes insipidus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000873Diabetes insipidus1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100568Neoplasm of the endocrine system1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100568Neoplasm of the endocrine system1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0008373Puberty and gonadal disorders1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0008373Puberty and gonadal disorders1CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000819Diabetes mellitus1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000777Abnormality of the thymus1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0003117Abnormal circulating hormone concentration1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031071Abnormal endocrine morphology1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031072Abnormal endocrine physiology1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012029Abnormal urine hormone level1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000847Abnormality of renin-angiotensin system1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000834Abnormality of the adrenal glands1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000828Abnormality of the parathyroid gland1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012680Abnormality of the pineal gland1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000820Abnormality of the thyroid gland1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000873Diabetes insipidus1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100568Neoplasm of the endocrine system1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0008373Puberty and gonadal disorders1DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000819Diabetes mellitus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000819Diabetes mellitus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000777Abnormality of the thymus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000777Abnormality of the thymus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0003117Abnormal circulating hormone concentration1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0003117Abnormal circulating hormone concentration1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031071Abnormal endocrine morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031071Abnormal endocrine morphology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031072Abnormal endocrine physiology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031072Abnormal endocrine physiology1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012029Abnormal urine hormone level1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012029Abnormal urine hormone level1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000847Abnormality of renin-angiotensin system1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000847Abnormality of renin-angiotensin system1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000834Abnormality of the adrenal glands1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000834Abnormality of the adrenal glands1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000828Abnormality of the parathyroid gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000828Abnormality of the parathyroid gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012680Abnormality of the pineal gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012680Abnormality of the pineal gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000820Abnormality of the thyroid gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000820Abnormality of the thyroid gland1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000873Diabetes insipidus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000873Diabetes insipidus1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100568Neoplasm of the endocrine system1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100568Neoplasm of the endocrine system1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0008373Puberty and gonadal disorders1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0008373Puberty and gonadal disorders1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000819Diabetes mellitus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000819Diabetes mellitus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000777Abnormality of the thymus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000777Abnormality of the thymus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0003117Abnormal circulating hormone concentration1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0003117Abnormal circulating hormone concentration1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031071Abnormal endocrine morphology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031071Abnormal endocrine morphology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031072Abnormal endocrine physiology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031072Abnormal endocrine physiology1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012029Abnormal urine hormone level1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012029Abnormal urine hormone level1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000847Abnormality of renin-angiotensin system1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000847Abnormality of renin-angiotensin system1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000834Abnormality of the adrenal glands1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000834Abnormality of the adrenal glands1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000828Abnormality of the parathyroid gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000828Abnormality of the parathyroid gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012680Abnormality of the pineal gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012680Abnormality of the pineal gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000820Abnormality of the thyroid gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000820Abnormality of the thyroid gland1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000873Diabetes insipidus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000873Diabetes insipidus1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100568Neoplasm of the endocrine system1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100568Neoplasm of the endocrine system1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0008373Puberty and gonadal disorders1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0008373Puberty and gonadal disorders1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000819Diabetes mellitus1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000819Diabetes mellitus1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000777Abnormality of the thymus1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000777Abnormality of the thymus1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0003117Abnormal circulating hormone concentration1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0003117Abnormal circulating hormone concentration1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0031071Abnormal endocrine morphology1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0031071Abnormal endocrine morphology1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0031072Abnormal endocrine physiology1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0031072Abnormal endocrine physiology1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0012029Abnormal urine hormone level1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0012029Abnormal urine hormone level1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000847Abnormality of renin-angiotensin system1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000847Abnormality of renin-angiotensin system1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000834Abnormality of the adrenal glands1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000834Abnormality of the adrenal glands1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000828Abnormality of the parathyroid gland1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000828Abnormality of the parathyroid gland1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0012680Abnormality of the pineal gland1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0012680Abnormality of the pineal gland1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000820Abnormality of the thyroid gland1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000820Abnormality of the thyroid gland1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000873Diabetes insipidus1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0000873Diabetes insipidus1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0100568Neoplasm of the endocrine system1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0100568Neoplasm of the endocrine system1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0008373Puberty and gonadal disorders1SRD5A2 CL E G H6716753ORPHA119311285607306
HP:0000818HP:0008373Puberty and gonadal disorders1SRD5A2 CL E G H6716753ORPHA120411285607306
HP:0000818HP:0000819Diabetes mellitus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000819Diabetes mellitus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000777Abnormality of the thymus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000777Abnormality of the thymus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0012093Abnormality of endocrine pancreas physiology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0003117Abnormal circulating hormone concentration1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0003117Abnormal circulating hormone concentration1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0031071Abnormal endocrine morphology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0031071Abnormal endocrine morphology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0031072Abnormal endocrine physiology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0031072Abnormal endocrine physiology1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0012029Abnormal urine hormone level1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0012029Abnormal urine hormone level1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000847Abnormality of renin-angiotensin system1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000847Abnormality of renin-angiotensin system1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000834Abnormality of the adrenal glands1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000834Abnormality of the adrenal glands1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000864Abnormality of the hypothalamus-pituitary axis1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000828Abnormality of the parathyroid gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000828Abnormality of the parathyroid gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0012680Abnormality of the pineal gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0012680Abnormality of the pineal gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000820Abnormality of the thyroid gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000820Abnormality of the thyroid gland1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0000873Diabetes insipidus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0000873Diabetes insipidus1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0100568Neoplasm of the endocrine system1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0100568Neoplasm of the endocrine system1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0008373Puberty and gonadal disorders1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM119311285607306
HP:0000818HP:0008373Puberty and gonadal disorders1SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM120411285607306
HP:0000818HP:0001953Diabetic ketoacidosis2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0001953Diabetic ketoacidosis2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0009800Maternal diabetes2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0009800Maternal diabetes2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0004904Maturity-onset diabetes of the young2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0004904Maturity-onset diabetes of the young2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100651Type I diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100651Type I diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0005978Type II diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0005978Type II diabetes mellitus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0010517Ectopic thymus tissue2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0010517Ectopic thymus tissue2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100521Neoplasm of the thymus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100521Neoplasm of the thymus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0003357Thymic hormone decreased2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0003357Thymic hormone decreased2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0010516Thymus hyperplasia2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0010516Thymus hyperplasia2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0030684Abnormal adiponectin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0030684Abnormal adiponectin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0500166Abnormal circulating gastrin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0500166Abnormal circulating gastrin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031099Abnormal circulating inhibin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031099Abnormal circulating inhibin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031427Abnormal circulating osteocalcin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031427Abnormal circulating osteocalcin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0030687Abnormal glucagon level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0030687Abnormal glucagon level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0032367Abnormal growth hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0032367Abnormal growth hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0040214Abnormal insulin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0040214Abnormal insulin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031508Abnormal thyroid hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031508Abnormal thyroid hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012099Abnormality of circulating catecholamine level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012099Abnormality of circulating catecholamine level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0004361Abnormality of circulating leptin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0004361Abnormality of circulating leptin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0003144Increased serum serotonin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0003144Increased serum serotonin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011732Abnormality of adrenal morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011732Abnormality of adrenal morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100631Neoplasm of the adrenal gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100631Neoplasm of the adrenal gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0003492High urinary gonadotropin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0003492High urinary gonadotropin level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012030Increased urinary cortisol level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012030Increased urinary cortisol level2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0040085Abnormal circulating aldosterone2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0040085Abnormal circulating aldosterone2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0040084Abnormal circulating renin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0040084Abnormal circulating renin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000841Hyperactive renin-angiotensin system2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000841Hyperactive renin-angiotensin system2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011733Abnormality of adrenal physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011733Abnormality of adrenal physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012285Abnormal hypothalamus physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012285Abnormal hypothalamus physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012503Abnormality of the pituitary gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012503Abnormality of the pituitary gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000863Central diabetes insipidus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000863Central diabetes insipidus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011766Abnormality of the parathyroid morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011766Abnormality of the parathyroid morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100733Neoplasm of the parathyroid gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100733Neoplasm of the parathyroid gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011767Abnormality of the parathyroid physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011767Abnormality of the parathyroid physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012681Abnormal pineal morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012681Abnormal pineal morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0012688Abnormality of pineal physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0012688Abnormality of pineal physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0011772Abnormal thyroid morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0011772Abnormal thyroid morphology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100031Neoplasm of the thyroid gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100031Neoplasm of the thyroid gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0002926Abnormality of thyroid physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0002926Abnormality of thyroid physiology2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0009806Nephrogenic diabetes insipidus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0009806Nephrogenic diabetes insipidus2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0040192APUdoma2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0040192APUdoma2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0040277Neoplasm of the pituitary gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0040277Neoplasm of the pituitary gland2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100634Neuroendocrine neoplasm2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100634Neuroendocrine neoplasm2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0008197Absence of pubertal development2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0008197Absence of pubertal development2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0008187Absence of secondary sex characteristics2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0008187Absence of secondary sex characteristics2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000840Adrenogenital syndrome2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000840Adrenogenital syndrome2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0008226Androgen insufficiency2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0008226Androgen insufficiency2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000823Delayed puberty2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000823Delayed puberty2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0100000Early onset of sexual maturation2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0100000Early onset of sexual maturation2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0000135Hypogonadism2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0000135Hypogonadism2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0002929Leydig cell insensitivity to gonadotropin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0002929Leydig cell insensitivity to gonadotropin2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0008193Primary gonadal insufficiency2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000818HP:0008193Primary gonadal insufficiency2CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000818HP:0001953Diabetic ketoacidosis2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0009800Maternal diabetes2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0004904Maturity-onset diabetes of the young2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100651Type I diabetes mellitus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0005978Type II diabetes mellitus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0010517Ectopic thymus tissue2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100521Neoplasm of the thymus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0003357Thymic hormone decreased2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0010516Thymus hyperplasia2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0030684Abnormal adiponectin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0500166Abnormal circulating gastrin concentration2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031099Abnormal circulating inhibin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031427Abnormal circulating osteocalcin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0030687Abnormal glucagon level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0032367Abnormal growth hormone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0040214Abnormal insulin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031508Abnormal thyroid hormone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012099Abnormality of circulating catecholamine level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0004361Abnormality of circulating leptin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0003144Increased serum serotonin2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011732Abnormality of adrenal morphology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100631Neoplasm of the adrenal gland2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0003492High urinary gonadotropin level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012030Increased urinary cortisol level2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0040085Abnormal circulating aldosterone2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0040084Abnormal circulating renin2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000841Hyperactive renin-angiotensin system2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011733Abnormality of adrenal physiology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012285Abnormal hypothalamus physiology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012503Abnormality of the pituitary gland2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000863Central diabetes insipidus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011766Abnormality of the parathyroid morphology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100733Neoplasm of the parathyroid gland2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011767Abnormality of the parathyroid physiology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012681Abnormal pineal morphology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0012688Abnormality of pineal physiology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0011772Abnormal thyroid morphology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100031Neoplasm of the thyroid gland2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0002926Abnormality of thyroid physiology2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0009806Nephrogenic diabetes insipidus2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0040192APUdoma2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0040277Neoplasm of the pituitary gland2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100634Neuroendocrine neoplasm2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0008197Absence of pubertal development2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0008187Absence of secondary sex characteristics2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000840Adrenogenital syndrome2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0008226Androgen insufficiency2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000823Delayed puberty2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0100000Early onset of sexual maturation2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0000135Hypogonadism2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0002929Leydig cell insensitivity to gonadotropin2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0008193Primary gonadal insufficiency2DMPK CL E G H1760273ORPHA12352933605377
HP:0000818HP:0001953Diabetic ketoacidosis2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0001953Diabetic ketoacidosis2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0009800Maternal diabetes2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0009800Maternal diabetes2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0004904Maturity-onset diabetes of the young2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0004904Maturity-onset diabetes of the young2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100651Type I diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100651Type I diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0005978Type II diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0005978Type II diabetes mellitus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0010517Ectopic thymus tissue2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0010517Ectopic thymus tissue2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100521Neoplasm of the thymus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100521Neoplasm of the thymus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0003357Thymic hormone decreased2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0003357Thymic hormone decreased2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0010516Thymus hyperplasia2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0010516Thymus hyperplasia2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0030684Abnormal adiponectin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0030684Abnormal adiponectin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0500166Abnormal circulating gastrin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0500166Abnormal circulating gastrin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031099Abnormal circulating inhibin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031099Abnormal circulating inhibin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031427Abnormal circulating osteocalcin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031427Abnormal circulating osteocalcin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0030687Abnormal glucagon level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0030687Abnormal glucagon level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0032367Abnormal growth hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0032367Abnormal growth hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0040214Abnormal insulin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0040214Abnormal insulin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031508Abnormal thyroid hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031508Abnormal thyroid hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012099Abnormality of circulating catecholamine level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012099Abnormality of circulating catecholamine level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0004361Abnormality of circulating leptin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0004361Abnormality of circulating leptin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0003144Increased serum serotonin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0003144Increased serum serotonin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011732Abnormality of adrenal morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011732Abnormality of adrenal morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100631Neoplasm of the adrenal gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100631Neoplasm of the adrenal gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0003492High urinary gonadotropin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0003492High urinary gonadotropin level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012030Increased urinary cortisol level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012030Increased urinary cortisol level2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0040085Abnormal circulating aldosterone2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0040085Abnormal circulating aldosterone2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0040084Abnormal circulating renin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0040084Abnormal circulating renin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000841Hyperactive renin-angiotensin system2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000841Hyperactive renin-angiotensin system2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011733Abnormality of adrenal physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011733Abnormality of adrenal physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012285Abnormal hypothalamus physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012285Abnormal hypothalamus physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012503Abnormality of the pituitary gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012503Abnormality of the pituitary gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000863Central diabetes insipidus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000863Central diabetes insipidus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011766Abnormality of the parathyroid morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011766Abnormality of the parathyroid morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100733Neoplasm of the parathyroid gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100733Neoplasm of the parathyroid gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011767Abnormality of the parathyroid physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011767Abnormality of the parathyroid physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012681Abnormal pineal morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012681Abnormal pineal morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0012688Abnormality of pineal physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0012688Abnormality of pineal physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0011772Abnormal thyroid morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0011772Abnormal thyroid morphology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100031Neoplasm of the thyroid gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100031Neoplasm of the thyroid gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0002926Abnormality of thyroid physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0002926Abnormality of thyroid physiology2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0009806Nephrogenic diabetes insipidus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0009806Nephrogenic diabetes insipidus2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0040192APUdoma2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0040192APUdoma2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0040277Neoplasm of the pituitary gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0040277Neoplasm of the pituitary gland2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100634Neuroendocrine neoplasm2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100634Neuroendocrine neoplasm2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0008197Absence of pubertal development2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0008197Absence of pubertal development2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0008187Absence of secondary sex characteristics2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0008187Absence of secondary sex characteristics2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000840Adrenogenital syndrome2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000840Adrenogenital syndrome2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0008226Androgen insufficiency2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0008226Androgen insufficiency2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000823Delayed puberty2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000823Delayed puberty2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0100000Early onset of sexual maturation2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0100000Early onset of sexual maturation2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0000135Hypogonadism2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0000135Hypogonadism2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0002929Leydig cell insensitivity to gonadotropin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0002929Leydig cell insensitivity to gonadotropin2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0008193Primary gonadal insufficiency2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000818HP:0008193Primary gonadal insufficiency2KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000818HP:0001953Diabetic ketoacidosis2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0001953Diabetic ketoacidosis2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000831Insulin-resistant diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0009800Maternal diabetes2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0009800Maternal diabetes2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0004904Maturity-onset diabetes of the young2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0004904Maturity-onset diabetes of the young2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100651Type I diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100651Type I diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0005978Type II diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0005978Type II diabetes mellitus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100530Abnormal calcium-phosphate regulating hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0010515Aplasia/Hypoplasia of the thymus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0010517Ectopic thymus tissue2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0010517Ectopic thymus tissue2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100521Neoplasm of the thymus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100521Neoplasm of the thymus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0003357Thymic hormone decreased2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0003357Thymic hormone decreased2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0010516Thymus hyperplasia2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0010516Thymus hyperplasia2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0006476Abnormality of the pancreatic islet cells2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0030684Abnormal adiponectin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0030684Abnormal adiponectin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031101Abnormal circulating antimullerian hormone concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0500166Abnormal circulating gastrin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0500166Abnormal circulating gastrin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0030338Abnormal circulating gonadotropin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031099Abnormal circulating inhibin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031099Abnormal circulating inhibin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031427Abnormal circulating osteocalcin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031427Abnormal circulating osteocalcin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0033799Abnormal circulating sex hormone concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0030687Abnormal glucagon level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0030687Abnormal glucagon level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0032367Abnormal growth hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0032367Abnormal growth hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0040214Abnormal insulin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0040214Abnormal insulin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0030352Abnormal serum insulin-like growth factor 1 level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031508Abnormal thyroid hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031508Abnormal thyroid hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011043Abnormality of circulating adrenocorticotropin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012099Abnormality of circulating catecholamine level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012099Abnormality of circulating catecholamine level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012111Abnormality of circulating glucocorticoid level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0004361Abnormality of circulating leptin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0004361Abnormality of circulating leptin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0500012Abnormality of gonadotropin-releasing hormone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0033644Elevated circulating erythropoietin concentration2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031052Elevated vascular endothelial growth factor level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0003144Increased serum serotonin2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0003144Increased serum serotonin2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011732Abnormality of adrenal morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011732Abnormality of adrenal morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100631Neoplasm of the adrenal gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100631Neoplasm of the adrenal gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031073Abnormal response to endocrine stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031080Abnormal response to glucagon stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0031218Inappropriate antidiuretic hormone secretion2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0003492High urinary gonadotropin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0003492High urinary gonadotropin level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0032330Increased urinary 11-deoxycorticosterone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0032329Increased urinary 11-deoxycortisol level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012030Increased urinary cortisol level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012030Increased urinary cortisol level2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0040085Abnormal circulating aldosterone2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0040085Abnormal circulating aldosterone2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0040084Abnormal circulating renin2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0040084Abnormal circulating renin2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000841Hyperactive renin-angiotensin system2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000841Hyperactive renin-angiotensin system2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011733Abnormality of adrenal physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011733Abnormality of adrenal physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012285Abnormal hypothalamus physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012285Abnormal hypothalamus physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012503Abnormality of the pituitary gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012503Abnormality of the pituitary gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0000863Central diabetes insipidus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0000863Central diabetes insipidus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011766Abnormality of the parathyroid morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011766Abnormality of the parathyroid morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100733Neoplasm of the parathyroid gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100733Neoplasm of the parathyroid gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011767Abnormality of the parathyroid physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011767Abnormality of the parathyroid physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012681Abnormal pineal morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012681Abnormal pineal morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0012688Abnormality of pineal physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0012688Abnormality of pineal physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0011772Abnormal thyroid morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0011772Abnormal thyroid morphology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0100031Neoplasm of the thyroid gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0100031Neoplasm of the thyroid gland2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0002926Abnormality of thyroid physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0002926Abnormality of thyroid physiology2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0009806Nephrogenic diabetes insipidus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818HP:0009806Nephrogenic diabetes insipidus2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0000818HP:0040192APUdoma2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0000818